Hypercalcitoninaemia in pseudohypo-parathyroidism type 1A and type 1B

Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare endocrine disorders characterised by normal renal function and renal resistance to the action of the parathyroid hormone. Type 1A (PHP1A), which is the most common variant, also include developmental and skeletal defects named as Albright hereditary osteodystrophy (AHO). We present two cases, a 54- and a 33-year-old male diagnosed with PHP who were referred to us for persistently high levels of serum calcitonin. AHO and multinodular goitre were present in the 54-year-old male, while the second patient was free of skeletal deformities and his thyroid gland was of normal size and without nodular appearance. We performed GNAS molecular analysis (methylation status and copy number analysis by MS-MLPA) in genomic DNA samples for both patients. The analysis revealed a novel missense variant c.131T>G p.(Leu44Pro) affecting GNAS exon 1, in the patient with the clinical diagnosis of PHP1A. This amino acid change appears to be in accordance with the clinical diagnosis of the patient. The genomic DNA analysis of the second patient revealed the presence of the recurrent 3-kb deletion affecting the imprinting control region localised in the STX16 region associated with the loss of methylation (LOM) at the GNAS A/B differentially methylated region and consistent with the diagnosis of an autosomal dominant form of PHP type 1B (PHP1B). In conclusion, hypercalcitoninaemia may be encountered in PHP1A and PHP1B even in the absence of thyroid pathology. Learning points: We describe a novel missense variant c.131T>G p.(Leu44Pro) affecting GNAS exon 1 as the cause of PHP1A. Hypercalcitoninaemia in PHP1A is considered an associated resistance to calcitonin, as suggested by the generalised impairment of Gs\u3b1-mediated hormone signalling. GNAS methylation defects, as in type PHP1B, without thyroid pathology can also present with hypercalcitoninaemia

Sarcopenia in patients with diabetes mellitus.

IntroductionDiseases such as diabetes mellitus may be associated with adverse changes in body composition. Sarcopenia is characterized by a progressive and generalized loss of skeletal muscle mass and functionality.AimTo investigate the relationship between type 2 diabetes mellitus (T2DM) and sarcopenia.Materials and methodsIn a retrospective, non-randomized study, 35 T2DM patients, aged 20-80 years, were assessed for sarcopenia prevalence compared to controls (n=16). Appendicular skeletal mass (ASM) (kg) was measured, and sarcopenia was defined as SMI ResultsIncidence of sarcopenia was significantly higher in T2DM patients vs. controls (27% vs. 20%, p=0.01) and elderly vs. young participants (40% vs. 12%, pConclusionsA moderate prevalence of sarcopenia in patients with type 2 diabetes mellitus was observed, which appeared to increase significantly in older men. Finally, incidence of T2DM displayed decreased physical performance in both genders

Osteoporosis Treatment Efficacy for Men: A Systematic Review and Meta-Analysis.

OBJECTIVES: To evaluate the efficacy of treatment options to reduce osteoporotic fracture risk in men. DESIGN: Systematic review and meta-analysis. SETTING: Randomized clinical trials that evaluated the efficacy of a treatment for osteoporosis or low bone mineral density for adult men and reported fracture outcomes. PARTICIPANTS: Men. MEASUREMENTS: PubMed, Embase, and the Cochrane Library databases were searched for relevant studies. Information was extracted from included studies on participant sociodemographic characteristics, number of male participants, treatment evaluated, comparator for evaluated treatment, study duration, and fracture outcomes. Risk of bias of individual studies was assessed using measures recommended by the Cochrane Collaboration. RESULTS: Twenty-four articles reporting results for 22 studies (including 4,868 male participants) met strict inclusion criteria. Fixed-effects meta-analyses using the Mantel-Haenszel method demonstrated significantly lower risk of vertebral fractures with alendronate (relative risk (RR) = 0.328, 95% confidence interval (CI) = 0.155-0.692) and risedronate (RR = 0.428, 95% CI = 0.245-0.746) but not with calcitonin (RR = 0.272, 95% CI = 0.046-1.608) or denosumab (RR = 0.256, 95% CI = 0.029-2.238) than in controls. For bisphosphonates as a treatment category, meta-analyses demonstrated significantly lower risk of vertebral fractures (RR = 0.368, 95% CI = 0.252-0.537) and nonvertebral fractures (RR = 0.604, 95% CI = 0.404-0.904) than in controls. The meta-analysis finding that bisphosphonates significantly reduce nonvertebral fracture risk was not robust to sensitivity analysis. CONCLUSION: Bisphosphonates reduce the risk of vertebral and possibly nonvertebral fractures for men with osteoporosis. Further studies are needed to evaluate the efficacy of bisphosphonates for reducing nonvertebral fracture risk and the efficacy of nonbisphosphonates for reducing vertebral and nonvertebral fracture risk in men with osteoporosis

Sarcopenic Obesity in Individuals With Neurodisabilities: The SarcObeNDS Study.

IntroductionPatients with neurodisabilities (NDS) are prone to alterations in body composition. Sarcopenic obesity (SO) is a condition characterized by increased adipose tissue accompanied by sarcopenia. The aim of this study was to investigate the prevalence of SO in patients with NDS, including stroke, spinal cord, and traumatic brain injuries.MethodsThe study Sarcopenic Obesity in NeuroDisabled Subjects (acronym: SarcObeNDS) was a cross-sectional study of hospitalized patients (n = 82) and healthy controls (n = 32) with a mean age of 60.00 ± 14.22 years old. SO and sarcopenia were assessed through total body fat % (TBF %), fat mass index (fat mass to height2: FMI = FM/h2; kg/m2), and skeletal muscle index (appendicular skeletal muscle to height2: SMI = ASM/h2; kg/m2) via full-body dual-energy X-ray absorptiometry (DXA). This study was registered in the international database ClinicalTrials.gov with the unique identification number NCT03863379.ResultsA statistically significant difference was found in SMI (7.18 ± 0.95 vs. 6.00 ± 1.13 kg/m2, p p = 0.783) and FMI (p = 0.143) between groups. The results remained the same after controlling the results for gender and BMI. A strong positive correlation was demonstrated between BMI and TBF for the total population (r = 0.616, p r = 0.616, p r = 0.728, p ConclusionIn summary, we observed significantly lower BMI and SMI scores in both genders compared to healthy controls. At the clinical level, a timely diagnosis and rapid treatment of sarcopenia and/or obesity in this population may prevent further metabolic repercussions accompanied by higher functional decline and lower quality of life

An increase in dietary n-3 fatty acids decreases a marker of bone resorption in humans

Human, animal, and in vitro research indicates a beneficial effect of appropriate amounts of omega-3 (n-3) polyunsaturated fatty acids (PUFA) on bone health. This is the first controlled feeding study in humans to evaluate the effect of dietary plant-derived n-3 PUFA on bone turnover, assessed by serum concentrations of N-telopeptides (NTx) and bone-specific alkaline phosphatase (BSAP). Subjects (n = 23) consumed each diet for 6 weeks in a randomized, 3-period crossover design: 1) Average American Diet (AAD; [34% total fat, 13% saturated fatty acids (SFA), 13% monounsaturated fatty acids (MUFA), 9% PUFA (7.7% LA, 0.8% ALA)]), 2) Linoleic Acid Diet (LA; [37% total fat, 9% SFA, 12% MUFA, 16% PUFA (12.6% LA, 3.6% ALA)]), and 3) α-Linolenic Acid Diet (ALA; [38% total fat, 8% SFA, 12% MUFA, 17% PUFA (10.5% LA, 6.5% ALA)]). Walnuts and flaxseed oil were the predominant sources of ALA. NTx levels were significantly lower following the ALA diet (13.20 ± 1.21 nM BCE), relative to the AAD (15.59 ± 1.21 nM BCE) (p < 0.05). Mean NTx level following the LA diet was 13.80 ± 1.21 nM BCE. There was no change in levels of BSAP across the three diets. Concentrations of NTx were positively correlated with the pro-inflammatory cytokine TNFα for all three diets. The results indicate that plant sources of dietary n-3 PUFA may have a protective effect on bone metabolism via a decrease in bone resorption in the presence of consistent levels of bone formation

Association of physical exercise and calcium intake with bone mass measured by quantitative ultrasound

<p>Abstract</p> <p>Background</p> <p>Interventions other than medications in the management of osteoporosis are often overlooked. The purpose of this study was to investigate the association of physical activity and calcium intake with bone parameters.</p> <p>Methods</p> <p>We measured the heel T-score and stiffness index (SI) in 1890 pre- and postmenopausal women by quantitative ultrasound (QUS) and assessed physical activity and dietary calcium intake by questionnaire. Participants were divided according to their weekly physical activity (sedentary, moderately active, systematically active) and daily calcium consumption (greater than or less than 800 mg/day).</p> <p>Results</p> <p>SI values were significantly different among premenopausal groups (p = 0.016) and between sedentary and systematically active postmenopausal women (p = 0.039). QUS T-scores in systematically active premenopausal women with daily calcium intake > 800 mg/day were significantly higher than those in all other activity groups (p < 0.05) independent of calcium consumption.</p> <p>Conclusions</p> <p>Systematic physical activity and adequate dietary calcium intake are indicated for women as a means to maximize bone status benefits.</p

Vitamin D and COVID-19

Epidemiological data report that several countries with a high prevalence of hypovitaminosis D may have increased susceptibility to complications and mortality due to COVID-19 infection. These reports, however, have limitations given that they derive from observational studies. Nevertheless, while awaiting more robust data, clinicians should treat patients with vitamin D deficiency irrespective of whether or not it has a link with respiratory infections. © 2020, Hellenic Endocrine Society